The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH)

Gene

Volumn 499, Issue 1, 2012, Pages 218-222

  Soufi, Muhidien ^a   Ruppert, Volker ^a   Kurt, Bilgen ^a   Schaefer, Juergen R ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

ABCA1; Familial hypercholesterolemia; LDL receptor; SR BI; SREBP pathway

Indexed keywords

ABC TRANSPORTER A1; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; INSULIN INDUCED GENE 1 PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; PROTEIN; SCAVENGER RECEPTOR BI; STEROL REGULATORY ELEMENT BINDING PROTEIN; STEROL REGULATORY ELEMENT BINDING PROTEIN 1; STEROL REGULATORY ELEMENT BINDING PROTEIN 2; STEROL REGULATORY ELEMENT BINDING PROTEIN CLEAVAGE ACTIVATING PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CELLS, CULTURED; FEMALE; FIBROBLASTS; HEK293 CELLS; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MODELS, BIOLOGICAL; MUTATION; PRIMARY CELL CULTURE; RECEPTORS, LDL; SCAVENGER RECEPTORS, CLASS B; SEVERITY OF ILLNESS INDEX; SIGNAL TRANSDUCTION; STEROL REGULATORY ELEMENT BINDING PROTEINS; TWINS, MONOZYGOTIC;

EID: 84859765520     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.02.031     Document Type: Article

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